Ataxia and Parkinsonism Related with CAG Expansion Size in a Cohort of Huntington’s Disease in the Brazilian Amazon Region.
Objective: We conducted genetic and clinical assessments in 22 families, with genetic diagnosis in 51 patients with HD in the state of Amazon, Brazil. The main objectives are evaluating demographics, genetic characteristics,…Childhood onset progressive myoclonus and ataxia in a patient with novel TBC1D2B gene mutation
Objective: Myoclonus, ataxia, tremor and dystonia have been described in some patients with TBC1D2B gene mutation. In this paper we present a patient with progressive…Effectiveness of abobotulinumtoxinA in adults with lower limb spasticity: Results from the AboLiSh real world observational study
Objective: Assess longitudinal goal attainment with repeated injections of abobotulinumtoxinA (aboBoNT-A) in the lower-limb over 16-months in a routine clinical setting. Background: While the efficacy…Mapping the Landscape of Tourette Syndrome Research: A Bibliometric Analysis
Objective: To analyse Tourette Syndrome research trends, methodologies, and key findings to identify focus areas and guide future investigations in understanding and treating this complex…Dentato-Rubro-Thalamic Tract Deep Brain Stimualtion for Essential Tremor: Stimulation Parameters and Clinical Outcomes
Objective: To assess the stimulation parameters and 2-year clinical outcomes of deep brain stimulation (DBS) of the dentato-rubro-thalamic tract (DRTt) for the treatment of essential…Association of cognition and other clinical characteristics of individuals with Essential Tremors
Objective: To examine the correlation between cognition and other clinical characteristics (motor and non-motor) in people with Essential Tremor. To examine the correlation between cognition and…Feasibility of Reliable, Remote Assessment of a 13-year-old Boy Who Stopped Talking
Objective: To assess the feasibility of reliable, remote assessments of videos of a 13-year-old boy who stopped talking Background: The sudden absence of speech in…Utility of Whole Exome Sequencing in movement disorders potentially related to Mitochondrial cytopathies
Objective: To describe the clinic-genetic profile of clinically suspected mitochondrial cytopathies with movement disorders (MDs). Background: Literature on the clinico-genetic spectrum of movement disorders related…Investigating the genetic relationship between vitamin B12 deficiency and Parkinson’s disease
Objective: The aim of this study was to investigate the genetic association and causal link between vitamin B12 and the risk and progression of Parkinson's…The First of Its Kind Genetics Cohort: the Black and African American Connections to Parkinson’s Disease (BLAAC PD) Study
Objective: Recruit and characterize a Black and African American (BAA) cohort to better understand Parkinson’s disease (PD). Background: A significant gap exists in our understanding…
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